Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	196528
Gene name	AT-rich interaction domain 2
Gene symbol	ARID2
Synonyms (NCBI Gene)	BAF200CSS6SMARCF3ZIPZAPp200
Chromosome	12
Chromosome location	12q12
Summary	This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and

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SNP ID	Visualize variation	Clinical significance	Consequence
rs772995852	C>G,T	Likely-pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs774801990	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs796052241	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555139310	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1555148625	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1555162230	AGAGTAAGGA>TT	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, frameshift variant
rs1565642121	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1592121202	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592121317	GA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592121752	CA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592145571	T>G	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant

582

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miRTarBase ID	miRNA	Experiments	Reference
MIRT001569	hsa-miR-155-5p	Luciferase reporter assay	18367535
MIRT001569	hsa-miR-155-5p	Luciferase reporter assay	18367535
MIRT001569	hsa-miR-155-5p	pSILAC	18668040
MIRT001384	hsa-miR-1-3p	pSILAC	18668040
MIRT001569	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT001569	hsa-miR-155-5p	Proteomics	18668040
MIRT001384	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT046521	hsa-miR-15b-5p	CLASH	23622248
MIRT038009	hsa-miR-424-3p	CLASH	23622248
MIRT640417	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT640418	hsa-miR-4277	HITS-CLIP	23824327
MIRT512501	hsa-miR-4499	PAR-CLIP	23446348
MIRT512500	hsa-miR-6728-3p	PAR-CLIP	23446348
MIRT512499	hsa-miR-4329	PAR-CLIP	23446348
MIRT512498	hsa-miR-93-3p	PAR-CLIP	23446348
MIRT512497	hsa-miR-3692-5p	PAR-CLIP	23446348
MIRT512496	hsa-miR-3928-5p	PAR-CLIP	23446348
MIRT512495	hsa-miR-6806-3p	PAR-CLIP	23446348
MIRT512494	hsa-miR-873-3p	PAR-CLIP	23446348
MIRT512493	hsa-miR-4663	PAR-CLIP	23446348
MIRT512491	hsa-miR-7160-5p	PAR-CLIP	23446348
MIRT512492	hsa-miR-8077	PAR-CLIP	23446348
MIRT512490	hsa-miR-6071	PAR-CLIP	23446348
MIRT512489	hsa-miR-127-5p	PAR-CLIP	23446348
MIRT512488	hsa-miR-3672	PAR-CLIP	23446348
MIRT512487	hsa-miR-6864-3p	PAR-CLIP	23446348
MIRT481591	hsa-miR-203a-3p	PAR-CLIP	23592263
MIRT368373	hsa-miR-212-3p	PAR-CLIP	23592263
MIRT368374	hsa-miR-132-3p	PAR-CLIP	23592263
MIRT481592	hsa-miR-194-5p	PAR-CLIP	23592263
MIRT481591	hsa-miR-203a-3p	PAR-CLIP	23592263
MIRT481590	hsa-miR-802	PAR-CLIP	23592263
MIRT481588	hsa-miR-4501	PAR-CLIP	23592263
MIRT481589	hsa-miR-545-5p	PAR-CLIP	23592263
MIRT481587	hsa-miR-222-5p	PAR-CLIP	23592263
MIRT481586	hsa-miR-4474-3p	PAR-CLIP	23592263
MIRT481585	hsa-miR-6875-3p	PAR-CLIP	23592263
MIRT481584	hsa-miR-4659a-3p	PAR-CLIP	23592263
MIRT481583	hsa-miR-4659b-3p	PAR-CLIP	23592263
MIRT441192	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT441192	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT736496	hsa-miR-922	Luciferase reporter assayWestern blottingqRT-PCR	33786634
MIRT640417	hsa-miR-5584-3p	HITS-CLIP	23824327
MIRT640418	hsa-miR-4277	HITS-CLIP	23824327
MIRT512501	hsa-miR-4499	PAR-CLIP	23446348
MIRT512500	hsa-miR-6728-3p	PAR-CLIP	23446348
MIRT512499	hsa-miR-4329	PAR-CLIP	23446348
MIRT512498	hsa-miR-93-3p	PAR-CLIP	23446348
MIRT512497	hsa-miR-3692-5p	PAR-CLIP	23446348
MIRT512496	hsa-miR-3928-5p	PAR-CLIP	23446348
MIRT512495	hsa-miR-6806-3p	PAR-CLIP	23446348
MIRT512494	hsa-miR-873-3p	PAR-CLIP	23446348
MIRT512493	hsa-miR-4663	PAR-CLIP	23446348
MIRT512491	hsa-miR-7160-5p	PAR-CLIP	23446348
MIRT512492	hsa-miR-8077	PAR-CLIP	23446348
MIRT512490	hsa-miR-6071	PAR-CLIP	23446348
MIRT512489	hsa-miR-127-5p	PAR-CLIP	23446348
MIRT512488	hsa-miR-3672	PAR-CLIP	23446348
MIRT512487	hsa-miR-6864-3p	PAR-CLIP	23446348
MIRT481591	hsa-miR-203a-3p	PAR-CLIP	23592263
MIRT368373	hsa-miR-212-3p	PAR-CLIP	23592263
MIRT368374	hsa-miR-132-3p	PAR-CLIP	23592263
MIRT481592	hsa-miR-194-5p	PAR-CLIP	23592263
MIRT481591	hsa-miR-203a-3p	PAR-CLIP	23592263
MIRT481590	hsa-miR-802	PAR-CLIP	23592263
MIRT481588	hsa-miR-4501	PAR-CLIP	23592263
MIRT481589	hsa-miR-545-5p	PAR-CLIP	23592263
MIRT481587	hsa-miR-222-5p	PAR-CLIP	23592263
MIRT481586	hsa-miR-4474-3p	PAR-CLIP	23592263
MIRT481585	hsa-miR-6875-3p	PAR-CLIP	23592263
MIRT481584	hsa-miR-4659a-3p	PAR-CLIP	23592263
MIRT481583	hsa-miR-4659b-3p	PAR-CLIP	23592263
MIRT796394	hsa-miR-1197	CLIP-seq
MIRT796395	hsa-miR-1207-3p	CLIP-seq
MIRT796396	hsa-miR-1245b-5p	CLIP-seq
MIRT796397	hsa-miR-1273g	CLIP-seq
MIRT796398	hsa-miR-128	CLIP-seq
MIRT796399	hsa-miR-1283	CLIP-seq
MIRT796400	hsa-miR-1304	CLIP-seq
MIRT796401	hsa-miR-132	CLIP-seq
MIRT796402	hsa-miR-1323	CLIP-seq
MIRT796403	hsa-miR-144	CLIP-seq
MIRT796404	hsa-miR-153	CLIP-seq
MIRT796405	hsa-miR-181a	CLIP-seq
MIRT796406	hsa-miR-181b	CLIP-seq
MIRT796407	hsa-miR-181c	CLIP-seq
MIRT796408	hsa-miR-181d	CLIP-seq
MIRT796409	hsa-miR-186	CLIP-seq
MIRT796410	hsa-miR-194	CLIP-seq
MIRT796411	hsa-miR-196a	CLIP-seq
MIRT796412	hsa-miR-196b	CLIP-seq
MIRT796413	hsa-miR-203	CLIP-seq
MIRT796414	hsa-miR-2052	CLIP-seq
MIRT796415	hsa-miR-212	CLIP-seq
MIRT796416	hsa-miR-217	CLIP-seq
MIRT796417	hsa-miR-2682	CLIP-seq
MIRT796418	hsa-miR-27a	CLIP-seq
MIRT796419	hsa-miR-27b	CLIP-seq
MIRT796420	hsa-miR-2964a-5p	CLIP-seq
MIRT796421	hsa-miR-298	CLIP-seq
MIRT796422	hsa-miR-3074-3p	CLIP-seq
MIRT796423	hsa-miR-3120-3p	CLIP-seq
MIRT796424	hsa-miR-3121-5p	CLIP-seq
MIRT796425	hsa-miR-3133	CLIP-seq
MIRT796426	hsa-miR-3142	CLIP-seq
MIRT796427	hsa-miR-3143	CLIP-seq
MIRT796428	hsa-miR-3144-3p	CLIP-seq
MIRT796429	hsa-miR-3156-5p	CLIP-seq
MIRT796430	hsa-miR-3157-5p	CLIP-seq
MIRT796431	hsa-miR-3160-5p	CLIP-seq
MIRT796432	hsa-miR-3163	CLIP-seq
MIRT796433	hsa-miR-3168	CLIP-seq
MIRT796434	hsa-miR-3200-3p	CLIP-seq
MIRT796435	hsa-miR-3202	CLIP-seq
MIRT796436	hsa-miR-323-5p	CLIP-seq
MIRT796437	hsa-miR-340	CLIP-seq
MIRT796438	hsa-miR-361-5p	CLIP-seq
MIRT796439	hsa-miR-3662	CLIP-seq
MIRT796440	hsa-miR-3671	CLIP-seq
MIRT796441	hsa-miR-3678-3p	CLIP-seq
MIRT796442	hsa-miR-3681	CLIP-seq
MIRT796443	hsa-miR-3689a-3p	CLIP-seq
MIRT796444	hsa-miR-3689c	CLIP-seq
MIRT796445	hsa-miR-3692	CLIP-seq
MIRT796446	hsa-miR-371-5p	CLIP-seq
MIRT796447	hsa-miR-371b-5p	CLIP-seq
MIRT796448	hsa-miR-376c	CLIP-seq
MIRT796449	hsa-miR-383	CLIP-seq
MIRT796450	hsa-miR-3919	CLIP-seq
MIRT796451	hsa-miR-3925-5p	CLIP-seq
MIRT796452	hsa-miR-3927	CLIP-seq
MIRT796453	hsa-miR-3941	CLIP-seq
MIRT796454	hsa-miR-4262	CLIP-seq
MIRT796455	hsa-miR-4272	CLIP-seq
MIRT796456	hsa-miR-4275	CLIP-seq
MIRT796457	hsa-miR-4282	CLIP-seq
MIRT796458	hsa-miR-4297	CLIP-seq
MIRT796459	hsa-miR-432	CLIP-seq
MIRT796460	hsa-miR-4425	CLIP-seq
MIRT796461	hsa-miR-4452	CLIP-seq
MIRT796462	hsa-miR-4461	CLIP-seq
MIRT796463	hsa-miR-4477b	CLIP-seq
MIRT796464	hsa-miR-449c	CLIP-seq
MIRT796465	hsa-miR-452	CLIP-seq
MIRT796466	hsa-miR-4521	CLIP-seq
MIRT796467	hsa-miR-4533	CLIP-seq
MIRT796468	hsa-miR-4640-5p	CLIP-seq
MIRT796469	hsa-miR-4658	CLIP-seq
MIRT796470	hsa-miR-466	CLIP-seq
MIRT796471	hsa-miR-4666-5p	CLIP-seq
MIRT796472	hsa-miR-4672	CLIP-seq
MIRT796473	hsa-miR-4676-3p	CLIP-seq
MIRT796474	hsa-miR-4680-3p	CLIP-seq
MIRT796475	hsa-miR-4684-3p	CLIP-seq
MIRT796476	hsa-miR-4686	CLIP-seq
MIRT796477	hsa-miR-4691-3p	CLIP-seq
MIRT796478	hsa-miR-4694-3p	CLIP-seq
MIRT796479	hsa-miR-4698	CLIP-seq
MIRT796480	hsa-miR-4699-3p	CLIP-seq
MIRT796481	hsa-miR-4711-5p	CLIP-seq
MIRT796482	hsa-miR-4719	CLIP-seq
MIRT796483	hsa-miR-4726-5p	CLIP-seq
MIRT796484	hsa-miR-4728-5p	CLIP-seq
MIRT796485	hsa-miR-4731-3p	CLIP-seq
MIRT796486	hsa-miR-4738-3p	CLIP-seq
MIRT796487	hsa-miR-4742-5p	CLIP-seq
MIRT796488	hsa-miR-4756-3p	CLIP-seq
MIRT796489	hsa-miR-4758-5p	CLIP-seq
MIRT796490	hsa-miR-4761-5p	CLIP-seq
MIRT796491	hsa-miR-4762-3p	CLIP-seq
MIRT796492	hsa-miR-4773	CLIP-seq
MIRT796493	hsa-miR-4801	CLIP-seq
MIRT796494	hsa-miR-487a	CLIP-seq
MIRT796495	hsa-miR-505	CLIP-seq
MIRT796496	hsa-miR-513b	CLIP-seq
MIRT796497	hsa-miR-513c	CLIP-seq
MIRT796498	hsa-miR-514b-5p	CLIP-seq
MIRT796499	hsa-miR-516a-3p	CLIP-seq
MIRT796500	hsa-miR-522	CLIP-seq
MIRT796501	hsa-miR-541	CLIP-seq
MIRT796502	hsa-miR-543	CLIP-seq
MIRT796503	hsa-miR-545	CLIP-seq
MIRT796504	hsa-miR-548a-3p	CLIP-seq
MIRT796505	hsa-miR-548c-3p	CLIP-seq
MIRT796506	hsa-miR-548e	CLIP-seq
MIRT796507	hsa-miR-548f	CLIP-seq
MIRT796508	hsa-miR-548g	CLIP-seq
MIRT796509	hsa-miR-548o	CLIP-seq
MIRT796510	hsa-miR-548p	CLIP-seq
MIRT796511	hsa-miR-553	CLIP-seq
MIRT796512	hsa-miR-582-5p	CLIP-seq
MIRT796513	hsa-miR-587	CLIP-seq
MIRT796514	hsa-miR-607	CLIP-seq
MIRT796515	hsa-miR-624	CLIP-seq
MIRT796516	hsa-miR-627	CLIP-seq
MIRT796517	hsa-miR-636	CLIP-seq
MIRT796518	hsa-miR-654-5p	CLIP-seq
MIRT796519	hsa-miR-764	CLIP-seq
MIRT796520	hsa-miR-875-5p	CLIP-seq
MIRT796521	hsa-miR-876-3p	CLIP-seq
MIRT796522	hsa-miR-890	CLIP-seq
MIRT796523	hsa-miR-940	CLIP-seq
MIRT796524	hsa-miR-944	CLIP-seq
MIRT1935143	hsa-miR-1193	CLIP-seq
MIRT796394	hsa-miR-1197	CLIP-seq
MIRT1935144	hsa-miR-1207-5p	CLIP-seq
MIRT796399	hsa-miR-1283	CLIP-seq
MIRT1935145	hsa-miR-1286	CLIP-seq
MIRT1935146	hsa-miR-1298	CLIP-seq
MIRT796401	hsa-miR-132	CLIP-seq
MIRT1935147	hsa-miR-139-5p	CLIP-seq
MIRT1935148	hsa-miR-140-3p	CLIP-seq
MIRT1935149	hsa-miR-145	CLIP-seq
MIRT796404	hsa-miR-153	CLIP-seq
MIRT1935150	hsa-miR-155	CLIP-seq
MIRT1935151	hsa-miR-1825	CLIP-seq
MIRT1935152	hsa-miR-199a-5p	CLIP-seq
MIRT1935153	hsa-miR-199b-5p	CLIP-seq
MIRT796414	hsa-miR-2052	CLIP-seq
MIRT1935154	hsa-miR-2117	CLIP-seq
MIRT796415	hsa-miR-212	CLIP-seq
MIRT796416	hsa-miR-217	CLIP-seq
MIRT1935155	hsa-miR-2277-3p	CLIP-seq
MIRT796417	hsa-miR-2682	CLIP-seq
MIRT796421	hsa-miR-298	CLIP-seq
MIRT796422	hsa-miR-3074-3p	CLIP-seq
MIRT796423	hsa-miR-3120-3p	CLIP-seq
MIRT796424	hsa-miR-3121-5p	CLIP-seq
MIRT796430	hsa-miR-3157-5p	CLIP-seq
MIRT1935156	hsa-miR-3158-5p	CLIP-seq
MIRT796432	hsa-miR-3163	CLIP-seq
MIRT796433	hsa-miR-3168	CLIP-seq
MIRT1935157	hsa-miR-3180-5p	CLIP-seq
MIRT1935158	hsa-miR-3183	CLIP-seq
MIRT1935159	hsa-miR-320e	CLIP-seq
MIRT1935160	hsa-miR-338-5p	CLIP-seq
MIRT796437	hsa-miR-340	CLIP-seq
MIRT1935161	hsa-miR-3613-3p	CLIP-seq
MIRT1935162	hsa-miR-3613-5p	CLIP-seq
MIRT1935163	hsa-miR-3622b-5p	CLIP-seq
MIRT796439	hsa-miR-3662	CLIP-seq
MIRT796441	hsa-miR-3678-3p	CLIP-seq
MIRT1935164	hsa-miR-3691-5p	CLIP-seq
MIRT796445	hsa-miR-3692	CLIP-seq
MIRT1935165	hsa-miR-375	CLIP-seq
MIRT1935166	hsa-miR-3921	CLIP-seq
MIRT1935167	hsa-miR-3973	CLIP-seq
MIRT1935168	hsa-miR-410	CLIP-seq
MIRT1935169	hsa-miR-4251	CLIP-seq
MIRT1935170	hsa-miR-4273	CLIP-seq
MIRT796456	hsa-miR-4275	CLIP-seq
MIRT796457	hsa-miR-4282	CLIP-seq
MIRT1935171	hsa-miR-4418	CLIP-seq
MIRT1935172	hsa-miR-4436a	CLIP-seq
MIRT796461	hsa-miR-4452	CLIP-seq
MIRT1935173	hsa-miR-4491	CLIP-seq
MIRT796464	hsa-miR-449c	CLIP-seq
MIRT1935174	hsa-miR-450b-5p	CLIP-seq
MIRT796466	hsa-miR-4521	CLIP-seq
MIRT1935175	hsa-miR-4653-5p	CLIP-seq
MIRT1935176	hsa-miR-4657	CLIP-seq
MIRT1935177	hsa-miR-4677-5p	CLIP-seq
MIRT1935178	hsa-miR-4678	CLIP-seq
MIRT796474	hsa-miR-4680-3p	CLIP-seq
MIRT1935179	hsa-miR-4684-5p	CLIP-seq
MIRT796477	hsa-miR-4691-3p	CLIP-seq
MIRT796479	hsa-miR-4698	CLIP-seq
MIRT796480	hsa-miR-4699-3p	CLIP-seq
MIRT1935180	hsa-miR-4704-3p	CLIP-seq
MIRT1935181	hsa-miR-4705	CLIP-seq
MIRT796481	hsa-miR-4711-5p	CLIP-seq
MIRT1935182	hsa-miR-4716-5p	CLIP-seq
MIRT796482	hsa-miR-4719	CLIP-seq
MIRT1935183	hsa-miR-4723-3p	CLIP-seq
MIRT1935184	hsa-miR-4724-5p	CLIP-seq
MIRT1935185	hsa-miR-4736	CLIP-seq
MIRT796487	hsa-miR-4742-5p	CLIP-seq
MIRT1935186	hsa-miR-4752	CLIP-seq
MIRT796490	hsa-miR-4761-5p	CLIP-seq
MIRT796491	hsa-miR-4762-3p	CLIP-seq
MIRT1935187	hsa-miR-4763-3p	CLIP-seq
MIRT796492	hsa-miR-4773	CLIP-seq
MIRT1935188	hsa-miR-4781-3p	CLIP-seq
MIRT1935189	hsa-miR-4787-5p	CLIP-seq
MIRT1935190	hsa-miR-4789-5p	CLIP-seq
MIRT1935191	hsa-miR-4793-5p	CLIP-seq
MIRT1935192	hsa-miR-4795-3p	CLIP-seq
MIRT1935193	hsa-miR-4803	CLIP-seq
MIRT796494	hsa-miR-487a	CLIP-seq
MIRT1935194	hsa-miR-488	CLIP-seq
MIRT1935195	hsa-miR-494	CLIP-seq
MIRT1935196	hsa-miR-507	CLIP-seq
MIRT1935197	hsa-miR-509-3-5p	CLIP-seq
MIRT1935198	hsa-miR-509-5p	CLIP-seq
MIRT796496	hsa-miR-513b	CLIP-seq
MIRT796500	hsa-miR-522	CLIP-seq
MIRT796503	hsa-miR-545	CLIP-seq
MIRT1935199	hsa-miR-548a-5p	CLIP-seq
MIRT1935200	hsa-miR-548ab	CLIP-seq
MIRT1935201	hsa-miR-548ak	CLIP-seq
MIRT1935202	hsa-miR-548b-5p	CLIP-seq
MIRT1935203	hsa-miR-548c-5p	CLIP-seq
MIRT1935204	hsa-miR-548d-5p	CLIP-seq
MIRT796508	hsa-miR-548g	CLIP-seq
MIRT1935205	hsa-miR-548h	CLIP-seq
MIRT1935206	hsa-miR-548i	CLIP-seq
MIRT1935207	hsa-miR-548j	CLIP-seq
MIRT1935208	hsa-miR-548m	CLIP-seq
MIRT796510	hsa-miR-548p	CLIP-seq
MIRT1935209	hsa-miR-548v	CLIP-seq
MIRT1935210	hsa-miR-548w	CLIP-seq
MIRT1935211	hsa-miR-548y	CLIP-seq
MIRT1935212	hsa-miR-557	CLIP-seq
MIRT1935213	hsa-miR-559	CLIP-seq
MIRT1935214	hsa-miR-563	CLIP-seq
MIRT1935215	hsa-miR-568	CLIP-seq
MIRT796513	hsa-miR-587	CLIP-seq
MIRT1935216	hsa-miR-604	CLIP-seq
MIRT796515	hsa-miR-624	CLIP-seq
MIRT1935217	hsa-miR-647	CLIP-seq
MIRT1935218	hsa-miR-656	CLIP-seq
MIRT1935219	hsa-miR-664	CLIP-seq
MIRT796523	hsa-miR-940	CLIP-seq
MIRT796524	hsa-miR-944	CLIP-seq
MIRT2175201	hsa-miR-101	CLIP-seq
MIRT2175202	hsa-miR-1253	CLIP-seq
MIRT796400	hsa-miR-1304	CLIP-seq
MIRT796401	hsa-miR-132	CLIP-seq
MIRT796403	hsa-miR-144	CLIP-seq
MIRT1935149	hsa-miR-145	CLIP-seq
MIRT1935150	hsa-miR-155	CLIP-seq
MIRT796405	hsa-miR-181a	CLIP-seq
MIRT796406	hsa-miR-181b	CLIP-seq
MIRT796407	hsa-miR-181c	CLIP-seq
MIRT796408	hsa-miR-181d	CLIP-seq
MIRT1935151	hsa-miR-1825	CLIP-seq
MIRT1935152	hsa-miR-199a-5p	CLIP-seq
MIRT1935153	hsa-miR-199b-5p	CLIP-seq
MIRT796414	hsa-miR-2052	CLIP-seq
MIRT2175203	hsa-miR-208a	CLIP-seq
MIRT2175204	hsa-miR-208b	CLIP-seq
MIRT796415	hsa-miR-212	CLIP-seq
MIRT796421	hsa-miR-298	CLIP-seq
MIRT796422	hsa-miR-3074-3p	CLIP-seq
MIRT796423	hsa-miR-3120-3p	CLIP-seq
MIRT2175205	hsa-miR-3120-5p	CLIP-seq
MIRT796424	hsa-miR-3121-5p	CLIP-seq
MIRT796425	hsa-miR-3133	CLIP-seq
MIRT796431	hsa-miR-3160-5p	CLIP-seq
MIRT796432	hsa-miR-3163	CLIP-seq
MIRT1935157	hsa-miR-3180-5p	CLIP-seq
MIRT1935158	hsa-miR-3183	CLIP-seq
MIRT2175206	hsa-miR-3616-3p	CLIP-seq
MIRT2175207	hsa-miR-3617	CLIP-seq
MIRT1935163	hsa-miR-3622b-5p	CLIP-seq
MIRT2175208	hsa-miR-3663-3p	CLIP-seq
MIRT796441	hsa-miR-3678-3p	CLIP-seq
MIRT796445	hsa-miR-3692	CLIP-seq
MIRT1935165	hsa-miR-375	CLIP-seq
MIRT2175209	hsa-miR-3907	CLIP-seq
MIRT2175210	hsa-miR-3920	CLIP-seq
MIRT1935166	hsa-miR-3921	CLIP-seq
MIRT796453	hsa-miR-3941	CLIP-seq
MIRT1935167	hsa-miR-3973	CLIP-seq
MIRT796454	hsa-miR-4262	CLIP-seq
MIRT796456	hsa-miR-4275	CLIP-seq
MIRT796457	hsa-miR-4282	CLIP-seq
MIRT2175211	hsa-miR-433	CLIP-seq
MIRT2175212	hsa-miR-4432	CLIP-seq
MIRT796463	hsa-miR-4477b	CLIP-seq
MIRT2175213	hsa-miR-4493	CLIP-seq
MIRT2175214	hsa-miR-451b	CLIP-seq
MIRT796465	hsa-miR-452	CLIP-seq
MIRT2175215	hsa-miR-4652-3p	CLIP-seq
MIRT1935175	hsa-miR-4653-5p	CLIP-seq
MIRT796470	hsa-miR-466	CLIP-seq
MIRT796472	hsa-miR-4672	CLIP-seq
MIRT796473	hsa-miR-4676-3p	CLIP-seq
MIRT1935178	hsa-miR-4678	CLIP-seq
MIRT796480	hsa-miR-4699-3p	CLIP-seq
MIRT796481	hsa-miR-4711-5p	CLIP-seq
MIRT2175216	hsa-miR-4712-5p	CLIP-seq
MIRT796482	hsa-miR-4719	CLIP-seq
MIRT2175217	hsa-miR-4721	CLIP-seq
MIRT1935183	hsa-miR-4723-3p	CLIP-seq
MIRT796485	hsa-miR-4731-3p	CLIP-seq
MIRT796487	hsa-miR-4742-5p	CLIP-seq
MIRT2175218	hsa-miR-4760-3p	CLIP-seq
MIRT796491	hsa-miR-4762-3p	CLIP-seq
MIRT796492	hsa-miR-4773	CLIP-seq
MIRT796493	hsa-miR-4801	CLIP-seq
MIRT796494	hsa-miR-487a	CLIP-seq
MIRT1935194	hsa-miR-488	CLIP-seq
MIRT2175219	hsa-miR-499-5p	CLIP-seq
MIRT796502	hsa-miR-543	CLIP-seq
MIRT796503	hsa-miR-545	CLIP-seq
MIRT796504	hsa-miR-548a-3p	CLIP-seq
MIRT1935199	hsa-miR-548a-5p	CLIP-seq
MIRT1935200	hsa-miR-548ab	CLIP-seq
MIRT1935201	hsa-miR-548ak	CLIP-seq
MIRT1935202	hsa-miR-548b-5p	CLIP-seq
MIRT1935203	hsa-miR-548c-5p	CLIP-seq
MIRT1935204	hsa-miR-548d-5p	CLIP-seq
MIRT796506	hsa-miR-548e	CLIP-seq
MIRT796507	hsa-miR-548f	CLIP-seq
MIRT796508	hsa-miR-548g	CLIP-seq
MIRT1935205	hsa-miR-548h	CLIP-seq
MIRT1935206	hsa-miR-548i	CLIP-seq
MIRT1935207	hsa-miR-548j	CLIP-seq
MIRT1935208	hsa-miR-548m	CLIP-seq
MIRT1935210	hsa-miR-548w	CLIP-seq
MIRT1935211	hsa-miR-548y	CLIP-seq
MIRT1935213	hsa-miR-559	CLIP-seq
MIRT1935215	hsa-miR-568	CLIP-seq
MIRT2175220	hsa-miR-580	CLIP-seq
MIRT796513	hsa-miR-587	CLIP-seq
MIRT1935216	hsa-miR-604	CLIP-seq
MIRT796517	hsa-miR-636	CLIP-seq
MIRT2175221	hsa-miR-641	CLIP-seq
MIRT1935217	hsa-miR-647	CLIP-seq
MIRT1935218	hsa-miR-656	CLIP-seq
MIRT1935219	hsa-miR-664	CLIP-seq
MIRT2175222	hsa-miR-760	CLIP-seq
MIRT796519	hsa-miR-764	CLIP-seq
MIRT2175223	hsa-miR-770-5p	CLIP-seq
MIRT2175224	hsa-miR-885-5p	CLIP-seq
MIRT1935143	hsa-miR-1193	CLIP-seq
MIRT1935164	hsa-miR-3691-5p	CLIP-seq
MIRT1935173	hsa-miR-4491	CLIP-seq
MIRT1935176	hsa-miR-4657	CLIP-seq
MIRT1935186	hsa-miR-4752	CLIP-seq
MIRT796399	hsa-miR-1283	CLIP-seq
MIRT796430	hsa-miR-3157-5p	CLIP-seq
MIRT796433	hsa-miR-3168	CLIP-seq
MIRT796439	hsa-miR-3662	CLIP-seq
MIRT796477	hsa-miR-4691-3p	CLIP-seq
MIRT796479	hsa-miR-4698	CLIP-seq
MIRT796503	hsa-miR-545	CLIP-seq
MIRT796510	hsa-miR-548p	CLIP-seq
MIRT796515	hsa-miR-624	CLIP-seq
MIRT796432	hsa-miR-3163	CLIP-seq
MIRT796505	hsa-miR-548c-3p	CLIP-seq
MIRT796511	hsa-miR-553	CLIP-seq
MIRT796432	hsa-miR-3163	CLIP-seq
MIRT796505	hsa-miR-548c-3p	CLIP-seq
MIRT796511	hsa-miR-553	CLIP-seq
MIRT796396	hsa-miR-1245b-5p	CLIP-seq
MIRT2478541	hsa-miR-1261	CLIP-seq
MIRT796397	hsa-miR-1273g	CLIP-seq
MIRT2478542	hsa-miR-1275	CLIP-seq
MIRT2478543	hsa-miR-1279	CLIP-seq
MIRT796399	hsa-miR-1283	CLIP-seq
MIRT1935147	hsa-miR-139-5p	CLIP-seq
MIRT2478544	hsa-miR-188-3p	CLIP-seq
MIRT796417	hsa-miR-2682	CLIP-seq
MIRT796423	hsa-miR-3120-3p	CLIP-seq
MIRT796426	hsa-miR-3142	CLIP-seq
MIRT2478545	hsa-miR-3148	CLIP-seq
MIRT796430	hsa-miR-3157-5p	CLIP-seq
MIRT1935156	hsa-miR-3158-5p	CLIP-seq
MIRT796432	hsa-miR-3163	CLIP-seq
MIRT796433	hsa-miR-3168	CLIP-seq
MIRT2478546	hsa-miR-3190	CLIP-seq
MIRT1935159	hsa-miR-320e	CLIP-seq
MIRT796436	hsa-miR-323-5p	CLIP-seq
MIRT796437	hsa-miR-340	CLIP-seq
MIRT796439	hsa-miR-3662	CLIP-seq
MIRT796443	hsa-miR-3689a-3p	CLIP-seq
MIRT796444	hsa-miR-3689c	CLIP-seq
MIRT796445	hsa-miR-3692	CLIP-seq
MIRT2478547	hsa-miR-369-3p	CLIP-seq
MIRT2478548	hsa-miR-374a	CLIP-seq
MIRT2478549	hsa-miR-374b	CLIP-seq
MIRT2478550	hsa-miR-374c	CLIP-seq
MIRT1935165	hsa-miR-375	CLIP-seq
MIRT1935167	hsa-miR-3973	CLIP-seq
MIRT2478551	hsa-miR-4263	CLIP-seq
MIRT2478552	hsa-miR-4268	CLIP-seq
MIRT796455	hsa-miR-4272	CLIP-seq
MIRT796458	hsa-miR-4297	CLIP-seq
MIRT2478553	hsa-miR-4303	CLIP-seq
MIRT796460	hsa-miR-4425	CLIP-seq
MIRT2478554	hsa-miR-4448	CLIP-seq
MIRT2478555	hsa-miR-4468	CLIP-seq
MIRT796463	hsa-miR-4477b	CLIP-seq
MIRT796464	hsa-miR-449c	CLIP-seq
MIRT2478556	hsa-miR-4517	CLIP-seq
MIRT2478557	hsa-miR-4525	CLIP-seq
MIRT2478558	hsa-miR-4665-5p	CLIP-seq
MIRT2478559	hsa-miR-4668-5p	CLIP-seq
MIRT796477	hsa-miR-4691-3p	CLIP-seq
MIRT796478	hsa-miR-4694-3p	CLIP-seq
MIRT796479	hsa-miR-4698	CLIP-seq
MIRT796480	hsa-miR-4699-3p	CLIP-seq
MIRT2478560	hsa-miR-4723-5p	CLIP-seq
MIRT796484	hsa-miR-4728-5p	CLIP-seq
MIRT2478561	hsa-miR-4731-5p	CLIP-seq
MIRT796486	hsa-miR-4738-3p	CLIP-seq
MIRT796487	hsa-miR-4742-5p	CLIP-seq
MIRT796490	hsa-miR-4761-5p	CLIP-seq
MIRT796491	hsa-miR-4762-3p	CLIP-seq
MIRT796492	hsa-miR-4773	CLIP-seq
MIRT2478562	hsa-miR-4790-3p	CLIP-seq
MIRT1935191	hsa-miR-4793-5p	CLIP-seq
MIRT1935192	hsa-miR-4795-3p	CLIP-seq
MIRT2478563	hsa-miR-4799-5p	CLIP-seq
MIRT1935193	hsa-miR-4803	CLIP-seq
MIRT1935195	hsa-miR-494	CLIP-seq
MIRT796500	hsa-miR-522	CLIP-seq
MIRT796503	hsa-miR-545	CLIP-seq
MIRT1935199	hsa-miR-548a-5p	CLIP-seq
MIRT2478564	hsa-miR-548aa	CLIP-seq
MIRT1935200	hsa-miR-548ab	CLIP-seq
MIRT1935201	hsa-miR-548ak	CLIP-seq
MIRT1935202	hsa-miR-548b-5p	CLIP-seq
MIRT796505	hsa-miR-548c-3p	CLIP-seq
MIRT1935203	hsa-miR-548c-5p	CLIP-seq
MIRT1935204	hsa-miR-548d-5p	CLIP-seq
MIRT796508	hsa-miR-548g	CLIP-seq
MIRT1935205	hsa-miR-548h	CLIP-seq
MIRT1935206	hsa-miR-548i	CLIP-seq
MIRT1935207	hsa-miR-548j	CLIP-seq
MIRT796510	hsa-miR-548p	CLIP-seq
MIRT1935209	hsa-miR-548v	CLIP-seq
MIRT1935210	hsa-miR-548w	CLIP-seq
MIRT1935211	hsa-miR-548y	CLIP-seq
MIRT796511	hsa-miR-553	CLIP-seq
MIRT1935213	hsa-miR-559	CLIP-seq
MIRT1935214	hsa-miR-563	CLIP-seq
MIRT1935215	hsa-miR-568	CLIP-seq
MIRT2478565	hsa-miR-570	CLIP-seq
MIRT2478566	hsa-miR-576-5p	CLIP-seq
MIRT796513	hsa-miR-587	CLIP-seq
MIRT796515	hsa-miR-624	CLIP-seq
MIRT2478567	hsa-miR-625	CLIP-seq
MIRT2478568	hsa-miR-637	CLIP-seq
MIRT2478569	hsa-miR-655	CLIP-seq
MIRT1935218	hsa-miR-656	CLIP-seq
MIRT2478570	hsa-miR-7	CLIP-seq
MIRT796521	hsa-miR-876-3p	CLIP-seq
MIRT796523	hsa-miR-940	CLIP-seq
MIRT796524	hsa-miR-944	CLIP-seq
MIRT2478541	hsa-miR-1261	CLIP-seq
MIRT2478543	hsa-miR-1279	CLIP-seq
MIRT796399	hsa-miR-1283	CLIP-seq
MIRT1935147	hsa-miR-139-5p	CLIP-seq
MIRT2478544	hsa-miR-188-3p	CLIP-seq
MIRT796423	hsa-miR-3120-3p	CLIP-seq
MIRT796430	hsa-miR-3157-5p	CLIP-seq
MIRT1935156	hsa-miR-3158-5p	CLIP-seq
MIRT796432	hsa-miR-3163	CLIP-seq
MIRT796433	hsa-miR-3168	CLIP-seq
MIRT2478546	hsa-miR-3190	CLIP-seq
MIRT2675361	hsa-miR-3201	CLIP-seq
MIRT1935159	hsa-miR-320e	CLIP-seq
MIRT796439	hsa-miR-3662	CLIP-seq
MIRT2478552	hsa-miR-4268	CLIP-seq
MIRT796455	hsa-miR-4272	CLIP-seq
MIRT2478554	hsa-miR-4448	CLIP-seq
MIRT2478556	hsa-miR-4517	CLIP-seq
MIRT796477	hsa-miR-4691-3p	CLIP-seq
MIRT796479	hsa-miR-4698	CLIP-seq
MIRT796480	hsa-miR-4699-3p	CLIP-seq
MIRT796486	hsa-miR-4738-3p	CLIP-seq
MIRT796490	hsa-miR-4761-5p	CLIP-seq
MIRT2478562	hsa-miR-4790-3p	CLIP-seq
MIRT2675362	hsa-miR-4791	CLIP-seq
MIRT1935191	hsa-miR-4793-5p	CLIP-seq
MIRT1935192	hsa-miR-4795-3p	CLIP-seq
MIRT1935195	hsa-miR-494	CLIP-seq
MIRT796503	hsa-miR-545	CLIP-seq
MIRT796505	hsa-miR-548c-3p	CLIP-seq
MIRT796510	hsa-miR-548p	CLIP-seq
MIRT1935209	hsa-miR-548v	CLIP-seq
MIRT796511	hsa-miR-553	CLIP-seq
MIRT1935214	hsa-miR-563	CLIP-seq
MIRT1935215	hsa-miR-568	CLIP-seq
MIRT796513	hsa-miR-587	CLIP-seq
MIRT796515	hsa-miR-624	CLIP-seq
MIRT1935218	hsa-miR-656	CLIP-seq
MIRT2478570	hsa-miR-7	CLIP-seq
MIRT796524	hsa-miR-944	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000776	Component	Kinetochore	NAS	11078522
GO:0000785	Component	Chromatin	NAS	12192000
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IDA	15640446
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	15985610, 22140357, 24981860, 30108113, 31759698, 33961781, 34591612, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006337	Process	Nucleosome disassembly	IDA	8895581
GO:0006338	Process	Chromatin remodeling	NAS	10078207
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	18809673
GO:0008270	Function	Zinc ion binding	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	26169693
GO:0016363	Component	Nuclear matrix	NAS	9128241
GO:0016514	Component	SWI/SNF complex	IDA	8895581
GO:0016586	Component	RSC-type complex	NAS	8804307
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	NAS	25066234
GO:0030336	Process	Negative regulation of cell migration	IDA	26169693
GO:0042592	Process	Homeostatic process	IEA
GO:0045582	Process	Positive regulation of T cell differentiation	NAS	12110891
GO:0045597	Process	Positive regulation of cell differentiation	NAS	11790558
GO:0045663	Process	Positive regulation of myoblast differentiation	NAS	15985610
GO:0046872	Function	Metal ion binding	IEA
GO:0048568	Process	Embryonic organ development	IEA
GO:0060038	Process	Cardiac muscle cell proliferation	IEA
GO:0060982	Process	Coronary artery morphogenesis	IEA
GO:0070316	Process	Regulation of G0 to G1 transition	NAS	11790558
GO:0072359	Process	Circulatory system development	IEA
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IMP	28381560
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	NAS	10778858
GO:2000781	Process	Positive regulation of double-strand break repair	NAS	25066234
GO:2000819	Process	Regulation of nucleotide-excision repair	NAS	12215535

MIM	HGNC	e!Ensembl
609539	18037	ENSG00000189079

Q68CP9

Protein name

AT-rich interactive domain-containing protein 2 (ARID domain-containing protein 2) (BRG1-associated factor 200) (BAF200) (Zinc finger protein with activation potential) (Zipzap/p200)

Protein function

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). May be involved in ta

PDB

7VDV , 7Y8R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01388	ARID	15 → 101	ARID/BRIGHT DNA binding domain	Domain
PF02257	RFX_DNA_binding	521 → 603	RFX DNA-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in heart. {ECO:0000269|PubMed:16782067}.

Sequence

MANSTGKAPPDERRKGLAFLDELRQFHHSRGSPFKKIPAVGGKELDLHGLYTRVTTLGGF
AKVSEKNQWGEIVEEFNFPRSCSNAAFALKQYYLRYLEKYEKVHHFGEDDDEVPPGNPKP
QLPIGAIPSSYNYQQHSVSDYLRQSYGLSMDFNSPNDYNKLVLSLLSGLPNEVDFAINVC
TLLSNESKHVMQLEKDPKIITLLLANAGVFDDTLGSFSTVFGEEWKEKTDRDFVKFWKDI
VDDNEVRDLISDRNKSHEGTSGEWIWESLFHPPRKLGINDIEGQRVLQIAVILRNLSFEE
GNVKLLAANRTCLRFLLLSAHSHFISLRQLGLDTLGNIAAELLLDPVDFKTTHLMFHTVT
KCLMSRDRFLKMRGMEILGNLCKAEDNGVLICEYVDQDSYREIICHLTLPDVLLVISTLE
VLYMLTEMGDVACTKIAKVEKSIDMLVCLVSMDIQMFGPDALAAVKLIEHPSSSHQMLSE
IRPQAIEQVQTQTHVASAPASRAVVAQHVAPPPGIVEIDSEKFACQWLNAHFEVNPDCSV
SRAEMYSEYLSTCSKLARGGILTSTGFYKCLRTVFPNHTVKRVEDSSSNGQAHIHVVGVK
RRAIPLPIQMYYQQQPVSTSVVRVDSVPDVSPAPSPAGIPHGSQTIGNHFQRTPVANQSS
NLTATQMSFPVQGVHTVAQTVSRIPQNPSPHTHQQQNAPVTVIQSKAPIPCEVVKATVIQ
NSIPQTGVPVSIAVGGGPPQSSVVQNHSTGPQPVTVVNSQTLLHHPSVIPQQSPLHTVVP
GQIPSGTPVTVIQQAVPQSHMFGRVQNIPACTSTVSQGQQLITTSPQPVQTSSQQTSAGS
QSQDTVIIAPPQYVTTSASNIVSATSVQNFQVATGQMVTIAGVPSPQASRVGFQNIAPKP
LPSQQVSSTVVQQPIQQPQQPTQQSVVIVSQPAQQGQTYAPAIHQIVLANPAALPAGQTV
QLTGQPNITPSSSPSPVPATNNQVPTAMSSSSTPQSQGPPPTVSQMLSVKRQQQQQHSPA
PPPQQVQVQVQQPQQVQMQVQPQQSNAGVGQPASGESSLIKQLLLPKRGPSTPGGKLILP
APQIPPPNNARAPSPQVVYQVASNQAAGFGVQGQTPAQQLLVGQQNVQLVPSAMPPSGGV
QTVPISNLQILPGPLISNSPATIFQGTSGNQVTITVVPNTSFAPATVSQGNATQLIAPAG
ITMSGTQTGVGLPVQTLPATQASPAGQSSCTTATPPFKGDKIICQKEEEAKEATGLHVHE
RKIEVMENPSCRRGATNTSNGDTKENEMHVGSLLNGRKYSDSSLPPSNSGKIQSETNQCS
LISNGPSLELGENGASGKQNSEQIDMQDIKSDLRKPLVNGICDFDKGDGSHLSKNIPNHK
TSNHVGNGEISPMEPQGTLDITQQDTAKGDQLERISNGPVLTLGGSSVSSIQEASNAATQ
QFSGTDLLNGPLASSLNSDVPQQRPSVVVSPHSTTSVIQGHQIIAVPDSGSKVSHSPALS
SDVRSTNGTAECKTVKRPAEDTDRETVAGIPNKVGVRIVTISDPNNAGCSATMVAVPAGA
DPSTVAKVAIESAVQQKQQHPPTYVQNVVPQNTPMPPSPAVQVQGQPNSSQPSPFSGSSQ
PGDPMRKPGQNFMCLWQSCKKWFQTPSQVFYHAATEHGGKDVYPGQCLWEGCEPFQRQRF
SFITHLQDKHCSKDALLAGLKQDEPGQAGSQKSSTKQPTVGGTSSTPRAQKAIVNHPSAA
LMALRRGSRNLVFRDFTDEKEGPITKHIRLTAALILKNIGKYSECGRRLLKRHENNLSVL
AISNMEASSTLAKCLYELNFTVQSKEQEKDSEMLQ

Sequence length

1835

Interactions

View interactions

	KEGG		Reactome
	ATP-dependent chromatin remodeling Hepatocellular carcinoma		RMTs methylate histone arginines RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

155

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ARID2-related BAFopathy	Likely pathogenic; Pathogenic	rs1943228378, rs1944306056, rs2137959875, rs2138132429, rs2138132620, rs2138150784, rs1343039962, rs2138166428	RCV001533065 RCV001533071 RCV001533064 RCV001533066 RCV001533067 RCV001533068 RCV001533069 RCV001533070
ARID2-related disorder	Likely pathogenic	rs2547657751	RCV003402369
Chronic diarrhea	Likely pathogenic	rs2138232693	RCV001526573
Coffin-Siris syndrome 6	Likely pathogenic; Pathogenic	rs1943228378, rs1944306056, rs2137959683, rs2138082983, rs2138162739, rs2138170893, rs2138174785, rs2138181920, rs113548014, rs2138180455, rs2138168418, rs2137959601, rs2138136386, rs2138177931, rs2138162523 View all (30 more)	RCV001332971 RCV001337023 RCV001523772 RCV001523773 RCV001523774 RCV001523775 RCV001523776 RCV001523777 RCV001706755 RCV001706877 RCV001775382 RCV001775484 RCV001843846 RCV002226885 RCV002246219 RCV002251094 RCV002272876 RCV002283665 RCV002283850 RCV002287584 RCV002291205 RCV002291470 RCV002468710 RCV002472283 RCV000519953 RCV000523398 RCV000522877 RCV000521774 RCV003335791 RCV003884006 RCV003458940 RCV003493293 RCV003990682 RCV003993556 RCV002250644 RCV000520055 RCV000521920 RCV000656739 RCV004698788 RCV000988815 RCV000995696 RCV001003474 RCV001198606 RCV001254114 RCV001265602
Desmoplastic/nodular medulloblastoma	Pathogenic	rs2138157209	RCV003232629
Gastric cancer	Likely pathogenic	rs79280775	RCV005912571
Medulloblastoma non-WNT/non-SHH group 4	Likely pathogenic	rs1592121202	RCV006254178
Medulloblastoma WNT activated	Pathogenic	rs774801990	RCV006254096
Neurodevelopmental delay	Likely pathogenic	rs2138130716	RCV002274395
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs79280775, rs2138165644	RCV001374931 RCV001780017

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adenoid cystic carcinoma	-	rs1555155110	RCV004813292
Autism spectrum disorder	Likely benign	rs138175128	RCV003127267
Castleman-Kojima disease	Uncertain significance	rs145854622	RCV000824694
Coffin-Siris syndrome	Uncertain significance	rs1320142801	RCV005356085
Developmental disorder	Likely benign	rs2138164349	RCV001843801
Lung cancer	-	rs2138157735	RCV005930678
Microcephaly	Likely benign	rs560068535	RCV001252696
Neurodevelopmental abnormality	Likely benign	rs1943489555	RCV001264720
See cases	Uncertain significance; Likely benign	rs1407814697, rs146518146, rs1320142801, rs2138130355	RCV002252966 RCV002252475 RCV002287675 RCV003128491
Thyroid cancer, nonmedullary, 1	Likely benign	rs78712333	RCV005889461

Show/Hide Text Mining Associations (49)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abdominal Neoplasms	Associate	31292535
Adenocarcinoma	Associate	26998897, 29522538, 35046897
Adenocarcinoma of Lung	Associate	35144623, 37327699
Adenoma	Associate	27175599
Alcoholism	Associate	28981154
Ataxia Telangiectasia	Associate	27203213
Bipolar Disorder	Associate	37248276
Breast Neoplasms	Associate	33592583, 38003265
Breast Neoplasms Male	Associate	38369186
Carcinogenesis	Associate	25502816
Carcinoid Tumor	Associate	29422640
Carcinoma	Associate	32487254
Carcinoma Hepatocellular	Associate	21822264, 28648284, 31173963, 32113157, 36530029
Carcinoma Non Small Cell Lung	Associate	34512623
Cholangiocarcinoma	Associate	28648284, 33579226
Coffin Siris syndrome	Associate	29698805, 34180430
Colonic Diseases	Associate	28179590
Congenital heart block	Associate	16200587
Constipation	Associate	35046897
Cortical Defects Wormian Bones and Dentinogenesis Imperfecta	Associate	29698805
Developmental Disabilities	Associate	37248276, 38453051
Erythema Infectiosum	Associate	29698805
Esophageal Squamous Cell Carcinoma	Associate	26812616
Exanthema	Associate	16200587
Gastrointestinal Neoplasms	Associate	35239432
Giant Cell Tumor of Bone	Associate	33707617
Hepatitis C	Associate	21822264
HIV Infections	Associate	31595161
Hypertension	Associate	37181702
Intellectual Disability	Associate	29698805, 34706719
Leukemia Myeloid Acute	Associate	32323795, 34042280
Lung Neoplasms	Associate	28494807, 33407425, 36567903
Lupus Erythematosus Systemic	Associate	38013304
Melanoma	Associate	22817889, 25393105, 36739402
Mouth Diseases	Associate	27834349
Mouth Neoplasms	Associate	31918270
Myopia	Associate	37181702
Neoplasm Invasiveness	Associate	36870308
Neoplasms	Associate	21822264, 23355908, 25393105, 25526364, 26998897, 28179590, 30475948, 31427792, 33579226, 35045748, 35239432, 36530029, 36821179
Neoplasms	Inhibit	34042280
Obesity	Associate	37181702
Paget's Disease Mammary	Associate	30905357
Pancreatic Intraductal Neoplasms	Associate	36056133
Small Cell Lung Carcinoma	Associate	33880365
Squamous Cell Carcinoma of Head and Neck	Associate	31918270
Stomach Neoplasms	Associate	27270314, 33481850
Thyroid Neoplasms	Associate	38275291
Toenail Dystrophy Isolated	Associate	29698805
Triple Negative Breast Neoplasms	Associate	36870308

ARID2 (AT-rich interaction domain 2)